ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580317552
Gene: ERCC4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2171834
ClinVar RCV Id:
RCV003097446
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005227.1:p.Tyr751Cys
CA394822706
NM_005236.3:c.2252A>G